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1.
BMC Geriatr ; 24(1): 116, 2024 Jan 31.
Article in English | MEDLINE | ID: mdl-38297194

ABSTRACT

BACKGROUND: Although about 10% of the Latin American population is indigenous, ethnic differences in disability-free life expectancy (DFLE) and life expectancy with disability (DLE) are unknown. OBJECTIVE: To estimate disability-free life expectancy and disabled life expectancy among Mapuche (the largest indigenous group) and non-indigenous older adults aged 60 years or more in Chile. METHOD: Disability was measured following a methodology that combines limitations of daily living, cognitive impairment and dependence previously validated in Chile. Finally, the DFLE was estimated using Sullivan's method combining life tables by ethnicity and disability proportions from the EDES survey designed for the study of ethnic differentials in health and longevity in Chile. RESULTS: Non-Indigenous people have a higher total and Disability-free life expectancy compared to Mapuche people at all ages. While at age 60 a Mapuche expects to live 18.9 years, of which 9.4 are disability-free, a non-Indigenous expects to live 26.4 years, of which 14 are disability-free. In addition, although the length of life with disability increases with age for both populations, Mapuche who survive to age 80 or 90 expect to live 84% and 91% of their remaining life with disability, higher proportions compared to non-indigenous people (62.9% and 75%, respectively). CONCLUSIONS: This is the first study addressing inequities in DFLE between the Mapuche and non-Indigenous population, reflected in lower total life expectancy, lower DFLE and higher DLE in Mapuche compared to the non-Indigenous population. Our results underscore the need for increased capacity to monitor mortality risks among older people, considering ethnic differences.


Subject(s)
Disabled Persons , Healthy Life Expectancy , Indians, South American , Aged , Humans , Chile/epidemiology , Life Expectancy , Middle Aged , Aged, 80 and over
2.
Nutr. hosp ; 40(6): 1144-1151, nov.-dic. 2023. tab, mapas, graf
Article in Spanish | IBECS | ID: ibc-228500

ABSTRACT

Introducción: a pesar de la alta prevalencia de la obesidad infantil (OI) globalmente, no existen índices compuestos para estimar los aspectos territoriales asociados al riesgo de OI. Objetivo: elaborar un índice de riesgo de OI (IROBIC) para unidades administrativas pequeñas (comunas) de Chile Métodos: se utilizaron datos de 2019 de fuentes públicas con información de menores de 10 años de todas las comunas de las 2 regiones más grandes. El IROBIC incluye 16 indicadores estandarizados por comuna y agrupados en cuatro dimensiones, determinadas por análisis de componentes principales (salud, socio económica, entornos comunal y educacional). Se determinó el IROBIC mediante una media geométrica ponderada y posteriormente se calcularon las diferencias entre las 10 y 5 comunas con mayores y menores IROBIC y de cada dimensión, con el coeficiente de disparidad Resultados: aun cuando los mayores IROBIC se obtuvieran en comunas más vulnerables, su valor total y el de cada dimensión, mostraron que es posible amortiguar los efectos de la desigualdad sobre la OI. Las 10 y 5 comunas con mayor IROBIC presentan un riesgo, 2,41 y 4,05 veces mayor que las de menor valor, respectivamente. Conclusiones: el IROBIC puede monitorear el riesgo de OI —y factores asociados— desde una perspectiva territorial. (AU)


Introduction: although the prevalence of childhood obesity (CO) is high globally, there are no composite indices to estimate territorial aspects associated with its risk Objective: to develop an obesity risk index (IROBIC) for small administrative units, called “comunas” in Chile Methods: we used 2019 data from public sources on children under 10 years living in “comunas” of the two largest regions. IROBIC includes 16 indicators standardized for each “comuna” and grouped together into four domains, determined by principal component analysis (health, socio-economic, built-in and educational environments). IROBIC was calculated as a weighted geometric mean. Differences in obesity risk between the 10 and 5 “comunas” with the highest and lowest IROBIC and of each domain, were calculated with the disparity ratio. Results: in spite of the poorest “comunas” having the highest IROBIC, when its value and that for each domain were considered, we observed that the effect of inequality could be mitigated. The 10 and 5 “comunas” with the highest IROBIC have a 2.41 and 4.05 higher risk of CO compared to those with the lowest values Conclusions: IROBIC is a useful tool for monitoring the risk of CO and its factors from a territorial perspective. (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Pediatric Obesity , Cities/statistics & numerical data , Risk Index , Chile , Socioeconomic Factors , Risk Factors
3.
Front Public Health ; 11: 1147542, 2023.
Article in English | MEDLINE | ID: mdl-37397745

ABSTRACT

Background: Ethnic and racial differences in life expectancy have been well established in different societies. However, even though an important part of the population of Latin America is Indigenous, there is little knowledge about them. Objective: Determine if there are ethnic differences in life expectancy at birth and at 60 years in Chile, and if the Mapuche (largest Indigenous ethnic group) have similar life expectancy to other Indigenous peoples. Method: Life tables for the Mapuche and other Indigenous groups and non-Indigenous people were built using the 2017 census. Specifically, we used the questions of the number of live children born and the number of surviving children. With this information, using the indirect method of own children we determined infantile mortality. Then, using the relational logit model and the model life table (west), we estimated the survival function for all ages. Results: Indigenous Chileans have seven years lower life expectancy at birth than the non-Indigenous population (76.2 vs. 83.2 years). The differential at age 60 is 6 years (20.3 vs. 26.4 years). We also found that Mapuche have an even greater disadvantage in survival than other ethnic groups. This is reflected in 2 years less life expectancy, both at birth and at 60 years. Discussion: Our results ratify the existence of marked ethnic-racial inequality in the extension of life in Chile and demonstrate a greater disadvantage in terms of survival of the Mapuche compared to other Indigenous and non-Indigenous groups. It is thus of great relevance to design policies that would decrease the existing inequalities in lifespan.


Subject(s)
Ethnicity , Life Expectancy , Child , Infant, Newborn , Humans , Middle Aged , Chile , Longevity , Censuses
4.
Nutr Hosp ; 40(6): 1144-1151, 2023 Dec 14.
Article in Spanish | MEDLINE | ID: mdl-37522450

ABSTRACT

Introduction: Introduction: although the prevalence of childhood obesity (CO) is high globally, there are no composite indices to estimate territorial aspects associated with its risk Objective: to develop an obesity risk index (IROBIC) for small administrative units, called "comunas" in Chile Methods: we used 2019 data from public sources on children under 10 years living in "comunas" of the two largest regions. IROBIC includes 16 indicators standardized for each "comuna" and grouped together into four domains, determined by principal component analysis (health, socio-economic, built-in and educational environments). IROBIC was calculated as a weighted geometric mean. Differences in obesity risk between the 10 and 5 "comunas" with the highest and lowest IROBIC and of each domain, were calculated with the disparity ratio. Results: in spite of the poorest "comunas" having the highest IROBIC, when its value and that for each domain were considered, we observed that the effect of inequality could be mitigated. The 10 and 5 "comunas" with the highest IROBIC have a 2.41 and 4.05 higher risk of CO compared to those with the lowest values Conclusions: IROBIC is a useful tool for monitoring the risk of CO and its factors from a territorial perspective.


Introducción: Introducción: a pesar de la alta prevalencia de la obesidad infantil (OI) globalmente, no existen índices compuestos para estimar los aspectos territoriales asociados al riesgo de OI. Objetivo: elaborar un índice de riesgo de OI (IROBIC) para unidades administrativas pequeñas (comunas) de Chile Métodos: se utilizaron datos de 2019 de fuentes públicas con información de menores de 10 años de todas las comunas de las 2 regiones más grandes. El IROBIC incluye 16 indicadores estandarizados por comuna y agrupados en cuatro dimensiones, determinadas por análisis de componentes principales (salud, socio económica, entornos comunal y educacional). Se determinó el IROBIC mediante una media geométrica ponderada y posteriormente se calcularon las diferencias entre las 10 y 5 comunas con mayores y menores IROBIC y de cada dimensión, con el coeficiente de disparidad Resultados: aun cuando los mayores IROBIC se obtuvieran en comunas más vulnerables, su valor total y el de cada dimensión, mostraron que es posible amortiguar los efectos de la desigualdad sobre la OI. Las 10 y 5 comunas con mayor IROBIC presentan un riesgo, 2,41 y 4,05 veces mayor que las de menor valor, respectivamente. Conclusiones: el IROBIC puede monitorear el riesgo de OI ­y factores asociados­ desde una perspectiva territorial.


Subject(s)
Pediatric Obesity , Humans , Child , Pediatric Obesity/epidemiology , Chile/epidemiology , Prevalence , Poverty
5.
Nutrients ; 16(1)2023 Dec 28.
Article in English | MEDLINE | ID: mdl-38201938

ABSTRACT

Santiago, Chile is a very segregated city, with higher childhood obesity rates observed in vulnerable areas. We compared the counts and proximity of unhealthy food outlets (UFOs) around a 400 m buffer of 443 public schools (municipal and subsidized) located in socioeconomically diverse neighborhoods in 14 municipalities of Santiago. This was a cross-sectional study in which the socioeconomic status (SES) of the population living inside the buffer was classified as middle-high, middle, and low. We used the Kruskal-Wallis test for comparisons of density and proximity between type of school, SES, and population density. We used a negative binomial model (unadjusted and adjusted by population density) to determine the expected change in counts of UFOs by SES, which was compared to the reference (middle-high). Low SES neighborhoods had significantly more counts of UFOs, and these were located much closer to schools. Low and middle SES neighborhoods had an 88% and 48% higher relative risk of having UFOs compared to middle-high SES areas; (IRR = 1.88; 95% CI 1.59-2.23) and (IRR = 1.48; 95% CI 1.20-1.82), respectively. A socio-spatial segregation of UFOs associated with childhood obesity across public schools was observed in Santiago.


Subject(s)
Pediatric Obesity , Child , Humans , Chile/epidemiology , Cross-Sectional Studies , Pediatric Obesity/epidemiology , Food , Schools
6.
Article in English | MEDLINE | ID: mdl-36360612

ABSTRACT

The risk of mortality in old age is associated with marital status and living arrangements. There is still little knowledge about this in Latin America. Our objectives are to examine the association between marital status, living arrangements and mortality of older adults (>60 years) in Chile, and to test whether this association varies when demographic, socioeconomic and health factors are included. We used data from the Social Protection Survey, and mortality data were linked to the Civil Registry. We estimate a series of Poisson regression models. Our results show a clear association between marriage and longevity, since even controlling for demographic, socioeconomic and health factors, we found that separated or divorced, widowed, and unmarried people showed higher relative mortality compared to married people (IRR1.24, IRR1.33, IRR1.35, respectively). Considering only living arrangements, the results show that living alone, alone with children, with children and other relatives or in other arrangements is associated with higher mortality (IRR1.22, IRR1.27, IRR1.35, IRR1.35, respectively) compared to those living with their partners and children. However, considering marital status and living arrangements together, we find that survival among older adults was strongly associated with marital status. Marital status continues to be a direct measure of living arrangements among older adults in Chile.


Subject(s)
Marriage , Residence Characteristics , Child , Humans , Aged , Middle Aged , Chile/epidemiology , Marital Status , Divorce
7.
Microorganisms ; 10(8)2022 Aug 22.
Article in English | MEDLINE | ID: mdl-36014102

ABSTRACT

Infections remain a major cause of morbidity and mortality among hematopoietic stem cell transplant (HSCT) recipients. Unlike Epstein-Barr Virus (EBV) and Human Cytomegalovirus (HCMV), Human Herpesvirus (HHV) 6, HHV7 and HHV8 are not routinely monitored in many centers, especially in the pediatric population of low-medium income countries. We screened EBV, HCMV, HHV6, HHV7 and HHV8 in 412 leukocytes-plasma paired samples from 40 pediatric patients assisted in a tertiary hospital in Mexico. Thirty-two underwent allo-HSCT, whereas eight received auto-HSCT. Overall viral detection frequencies in allo- and auto-HSCT were: EBV = 43.7% and 30.0%, HCMV = 5.0% and 6.7%, HHV6 = 7.9% and 20.0% and HHV7 = 9.7% and 23.3%. HHV8 was not detected in any sample. Interestingly, HHV6 and HHV7 were more frequent in auto-HSCT, and HHV6 was observed in all episodes of multiple detection in auto-HSCT patients. We found EBV DNA in plasma samples, whereas HCMV, HHV6 and HHV7 DNA were predominantly observed in leukocytes, indicative of their expansion in cellular compartments. We also found that IL-1ß, IL-2, IL-6 and IL-8 were significantly increased in episodes in which multiple viruses were simultaneously detected, and samples positive for EBV DNA and graft-versus-host disease had a further increase of IL-1ß and IL-8. In conclusion, the EBV, HCMV, HHV6 and HHV7 burdens were frequently detected in allo- and auto-HSCT, and their presence associated with systemic inflammation.

8.
Oxid Med Cell Longev ; 2022: 3094362, 2022.
Article in English | MEDLINE | ID: mdl-35795860

ABSTRACT

Background: Previous studies have suggested that guarana (Paullinia cupana) and açai (Euterpe oleracea) have antioxidant, anti-inflammatory, and proliferative properties, indicating their potential therapeutic action in wound healing. We produced a conjugated guarana-açai (GA) extract and tested its healing action on earthworms (Eisenia fetida) subjected to tail amputation by surgical incision. Methods: Extract from roasted guarana seeds and fresh açai seed berries was produced. The antioxidant and genoprotective capacity of GA extract was tested. The concentration with the most remarkable healing potential was used in subsequent tests. The last three posterior segments of the clitellate earthworm tail reared under standardized conditions were surgically amputated. Next, topical PBS or GA extract was applied to the surgical wound. The rate of cell migration and tissue regeneration at the local wound site was histologically evaluated after the procedure. Expression of the SOX4 gene that acts in epithelial-to-mesenchymal transition was determined by RT-qPCR. Results: Sixteen bioactive molecules, including some previously described substances, were identified. All tested concentrations exhibited antioxidant and genoprotective effects. The GA extract accelerated the healing processes as observed through macroscopic and histological analyses and increased expression of SOX4. Conclusion: The GA extract has a potential role in the healing of surgically induced wounds.


Subject(s)
Oligochaeta , Paullinia , Amputation, Surgical , Animals , Antioxidants/pharmacology , Fibroblasts , Oxidative Stress , Plant Extracts/pharmacology , Plant Extracts/therapeutic use , Wound Healing
9.
Cad Saude Publica ; 38(3): e00124921, 2022.
Article in English | MEDLINE | ID: mdl-35416894

ABSTRACT

We aimed to examine the degree to which social participation is associated with mortality risk in older adults in Chile. We used the Chilean National Survey on Elderly Dependency, which is linked to vital statistics, in order to obtain death records. Four proportional risk regression models were estimated. Even with controlled sociodemographic, economic, family, and health variables, older adults who participate in social activities had a 22% lower risk of death than those who do not participate. We concluded that social participation is a strong and significant protective factor for mortality in Chilean older adults. Social participation should thus be promoted from a life course perspective considering its effect on mortality in older adults who maintained an active social life.


Subject(s)
Social Participation , Aged , Brazil , Chile/epidemiology , Humans
10.
J Aging Health ; 34(1): 71-77, 2022 01.
Article in English | MEDLINE | ID: mdl-34139877

ABSTRACT

OBJECTIVES: To examine the association between education and mortality by age and gender in Chile. METHODS: We drew data from 10,147 adults aged 40 years and over from the Chilean Social Protection Survey linked to the national death records. We specify five Cox regression models to estimate the main and interaction effects for education levels, age, sex, and mortality. RESULTS: The hazard ratios reduce with increasing education. Secondary and tertiary education levels are associated, respectively, with 34% and 41% lower hazard rates than 0-4 years of schooling. Also, the educational gradient in mortality is significantly weaker at older ages, and it does not differ by gender. DISCUSSION: Our findings endorse the negative association of formal education with adult mortality, uncovering Chile's structural problems despite the economic improvements underway. It also corroborates the importance of novel longitudinal data for mortality analyses in Latin America.


Subject(s)
Death Certificates , Public Policy , Adult , Chile/epidemiology , Educational Status , Humans , Latin America , Middle Aged
13.
Rev Med Chil ; 149(2): 304-305, 2021 02.
Article in Spanish | MEDLINE | ID: mdl-34479279
15.
Rev. méd. Chile ; 149(2): 304-305, feb. 2021.
Article in Spanish | LILACS | ID: biblio-1389422
16.
Biomed Res Int ; 2018: 1942451, 2018.
Article in English | MEDLINE | ID: mdl-30402464

ABSTRACT

Barbatimão (Stryphnodendron adstringens, Mart.) is a native Brazilian species used in traditional medicine and some commercial preparations owing to its strong wound-healing activity. However, controversy regarding its use due to safety concerns over the potential genotoxic effect of this plant remains. In order to clarify this issue, the effect of hydroalcoholic extract of barbatimão in vitro on cell viability, DNA damage, and induction of apoptosis in two commercial cell lines of keratinocytes (HaCaT) and fibroblasts (HFF-1) was evaluated. Barbatimão stem bark hydroalcoholic extract (70% ethanol) was obtained and lyophilized for subsequent use in all experiments. The main bioactive molecules quantified by HPLC were gallic acid, caffeic acid, quercetin, catechin, and epigallocatechin gallate (EGCG). Barbatimão (0.024 to 1.99 mg/mL) was found to decrease cellular mortality as compared to the control group. GEMO assay, a noncellular DNA protocol that uses H2O2-exposed calf thymus DNA, revealed not only a genotoxic effect of barbatimão, but also a potential genoprotective action against H2O2-triggered DNA fragmentation. These results indicated that barbatimão at concentrations of 0.49 and 0.99 mg/mL, which are near to the levels found in commercial preparations, exerted an in vitro genoprotective effect on cells by decreasing the levels of DNA oxidation quantified by 8-hydroxy-2'-deoxyguanosine (8-OHdG) and reactive oxygen species (ROS) levels. Gene and protein apoptotic markers, quantified by qRT-PCR (BAX/Bcl-2 genes) and immunoassays (Caspases 3 and 8), respectively, also indicated a decrease in apoptotic events in comparison with control cells. Collectively, the results suggest that barbatimão could exert genoprotective and antiapoptotic effects on human keratinocytes and fibroblasts.


Subject(s)
DNA Damage , DNA Fragmentation/drug effects , Fabaceae/chemistry , Fibroblasts/metabolism , Keratinocytes/metabolism , Plant Extracts/pharmacology , Caspase 3/biosynthesis , Caspase 8/biosynthesis , Fibroblasts/pathology , Humans , Hydrogen Peroxide/pharmacology , Keratinocytes/pathology , Plant Extracts/chemistry , Proto-Oncogene Proteins c-bcl-2/biosynthesis , bcl-2-Associated X Protein/biosynthesis
17.
Revista Geografias ; ed.esp: 86-99, 2017. tab, graf, map
Article in Portuguese | Coleciona SUS | ID: biblio-946252

ABSTRACT

O objetivo do trabalho é identificar os principais padrões migratórios dos profissionais médicos segundo as Unidades de Federação (UFs) do Brasil, a partir dos Censos Demográficos dos anos 2000 e 2010. Construíram-se matrizes de migração para cada um dos pontos do tempo e se estimam taxas liquidas de migração para cada UF. Os resultados mostram que, apesar da identificação de um aumento no número de médicos que migram para outras UFs durante o período de estudo, continuam existindo diferenças significativas entre as regionais e UFs, em relação à alocação de médicos. A região Sudeste, especificamente, São Paulo, Minas Gerais e Rio de Janeiro são as principais UFs, fornecedoras de médicos para outros Estados e também são as principais receptoras. Realidade oposta é a de Amapá, a UF que recebe a menor quantidade de médicos imigrantes. Acreditamos que os resultados desta natureza permitem que o conhecimento sobre os deslocamentos dos médicos contribua a melhorar desenhos de planos estratégicos para estabelecer a quantidade mínima de médicos que cada Unidade de Federação do Brasil possa ter e monitorar estas correntes migratórias de mão de obra tão qualificada e específica como são os médicos.


The aim of this study is to identify the main migration patterns of medical professionals according to the Brazilian Federative Units (UFs), based on Demographic Census data of the years 2000 and 2010. Migration matrices for each of point in time are produced, and net migration rates for each UF are estimated. The results show that despite the increase in the number of physicians out flowing to other UFs during the study period, there are still significant differences between Regions and UFs related to the allocation of physicians. The Southeast Region, particularly, São Paulo, Minas Gerais and Rio de Janeiro are the main UFs providing these professionals to other states and are also the main attractors. Amapá shows opposite reality: it is the UF that receives the lowest inflow of physicians. Results suggest that the sort of knowledge presented about spatial movements of physicians may contribute to the design of strategic plans that allow each Federation Units of Brazil count on a minimum quantity of physicians. It is also am important tool for monitoring in-outflows of highly qualified and specific labor force as the physicians are.


Subject(s)
Humans , Credentialing , Human Migration/statistics & numerical data , Physicians , Physicians Distribution/statistics & numerical data , Brazil , National Health Programs
18.
Transl Psychiatry ; 5: e616, 2015 Aug 11.
Article in English | MEDLINE | ID: mdl-26261884

ABSTRACT

In search for the elusive schizophrenia pathway, candidate genes for the disorder from a discovery sample were localized within the energy-delivering and ischemia protection pathway. To test the adult vascular-ischemic (AVIH) and the competing neurodevelopmental hypothesis (NDH), functional genomic analyses of practically all available schizophrenia-associated genes from candidate gene, genome-wide association and postmortem expression studies were performed. Our results indicate a significant overrepresentation of genes involved in vascular function (P < 0.001), vasoregulation (that is, perivascular (P < 0.001) and shear stress (P < 0.01), cerebral ischemia (P < 0.001), neurodevelopment (P < 0.001) and postischemic repair (P < 0.001) among schizophrenia-associated genes from genetic association studies. These findings support both the NDH and the AVIH. The genes from postmortem studies showed an upregulation of vascular-ischemic genes (P = 0.020) combined with downregulated synaptic (P = 0.005) genes, and ND/repair (P = 0.003) genes. Evidence for the AVIH and the NDH is critically discussed. We conclude that schizophrenia is probably a mild adult vascular-ischemic and postischemic repair disorder. Adult postischemic repair involves ND genes for adult neurogenesis, synaptic plasticity, glutamate and increased long-term potentiation of excitatory neurotransmission (i-LTP). Schizophrenia might be caused by the cerebral analog of microvascular angina.


Subject(s)
Brain Ischemia/complications , Brain Ischemia/physiopathology , Genomics/methods , Schizophrenia/complications , Schizophrenia/physiopathology , Brain Ischemia/genetics , Genetic Predisposition to Disease/genetics , Genome-Wide Association Study , Humans , Long-Term Potentiation/physiology , Neuronal Plasticity/physiology , Schizophrenia/genetics , Synaptic Transmission/physiology
19.
Mol Psychiatry ; 14(8): 774-85, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19349958

ABSTRACT

A genome scan meta-analysis (GSMA) was carried out on 32 independent genome-wide linkage scan analyses that included 3255 pedigrees with 7413 genotyped cases affected with schizophrenia (SCZ) or related disorders. The primary GSMA divided the autosomes into 120 bins, rank-ordered the bins within each study according to the most positive linkage result in each bin, summed these ranks (weighted for study size) for each bin across studies and determined the empirical probability of a given summed rank (P(SR)) by simulation. Suggestive evidence for linkage was observed in two single bins, on chromosomes 5q (142-168 Mb) and 2q (103-134 Mb). Genome-wide evidence for linkage was detected on chromosome 2q (119-152 Mb) when bin boundaries were shifted to the middle of the previous bins. The primary analysis met empirical criteria for 'aggregate' genome-wide significance, indicating that some or all of 10 bins are likely to contain loci linked to SCZ, including regions of chromosomes 1, 2q, 3q, 4q, 5q, 8p and 10q. In a secondary analysis of 22 studies of European-ancestry samples, suggestive evidence for linkage was observed on chromosome 8p (16-33 Mb). Although the newer genome-wide association methodology has greater power to detect weak associations to single common DNA sequence variants, linkage analysis can detect diverse genetic effects that segregate in families, including multiple rare variants within one locus or several weakly associated loci in the same region. Therefore, the regions supported by this meta-analysis deserve close attention in future studies.


Subject(s)
Chromosomes, Human/genetics , Genetic Linkage , Genetic Predisposition to Disease , Genome-Wide Association Study , Schizophrenia/genetics , Female , Genome, Human/genetics , Genome-Wide Association Study/methods , Humans , Lod Score , Male , Pedigree
20.
Neurology ; 62(2): 208-11, 2004 Jan 27.
Article in English | MEDLINE | ID: mdl-14745055

ABSTRACT

OBJECTIVE: To assess the relative contribution of genetic and environmental factors for the etiology of essential tremor (ET) and to explore the effect of different diagnostic criteria. METHODS: A total of 2,448 twins of the Danish twin registry aged 70 years or more were screened for ET by an interview and an Archimedes spiral test. All twin pairs (n = 162) with a positive screening test of at least one of the twins were recontacted and 218 individuals (109 pairs) were interviewed and examined by a movement disorder specialist. The consensus criteria of the Tremor Investigation Group were applied to diagnose ET. RESULTS: Twenty-nine twins fulfilled the criteria of definite, 7 of probable, and 56 of possible ET. The probandwise concordance rate for the broadest definition of ET was 77% for monozygotic twins (MZ) and 59% for dizygotic twins (DZ). However, in an analysis restricted to cases of probable and definite ET, the concordance rates were 93% and 29%. The heritability for the liability to ET ranged from 93% to 99% using a general population prevalence of 1.2% for white 70+-year-olds. The inclusion of probable and exclusion of possible cases in the diagnosis of ET produced the highest concordance rates. CONCLUSION: The high concordance among MZ twins of very old age in this first population-based twin study of ET suggests that a disease phenotype consisting of definite and probable ET has a high heritability and hence is a good candidate for a phenotype to be used in linkage studies.


Subject(s)
Diseases in Twins/epidemiology , Essential Tremor/epidemiology , Twins, Monozygotic , Age Factors , Aged , Aged, 80 and over , Denmark/epidemiology , Essential Tremor/genetics , Humans , Longitudinal Studies , Neurologic Examination , Phenotype , Twins, Dizygotic
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